Canonical Allele Identifier: CA259047
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886281
MyVariant Identifiers: chrX:g.107930851del (hg19) chrX:g.108687621del (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108687622del , CM000685.2:g.108687622del GRCh38
NC_000023.10:g.107930852del , CM000685.1:g.107930852del GRCh37
NC_000023.9:g.107817508del NCBI36
NG_011977.1:g.252699del
NG_011977.2:g.252699del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4456del MANE Select ENSP00000331902.7:p.Thr1486HisfsTer?
ENST00000361603.7:c.4438del ENSP00000354505.2:p.Thr1480HisfsTer?
ENST00000510690.2:n.950del
ENST00000328300.10:c.4456del ENSP00000331902.6:p.Thr1486HisfsTer?
ENST00000361603.6:c.4438del ENSP00000354505.2:p.Thr1480HisfsTer?
ENST00000515658.1:c.252del
NM_000495.4:c.4438del NP_000486.1:p.Thr1480HisfsTer?
NM_033380.2:c.4456del NP_203699.1:p.Thr1486HisfsTer?
XM_005262070.2:c.4447del XP_005262127.1:p.Thr1483HisfsTer?
XM_006724616.2:c.4456del XP_006724679.1:p.Thr1486HisfsTer?
XM_011530849.1:c.4132del XP_011529151.1:p.Thr1378HisfsTer?
XM_011530851.1:c.2029del XP_011529153.1:p.Thr677HisfsTer?
XM_011530849.2:c.4471del XP_011529151.2:p.Thr1491HisfsTer?
XM_017029259.2:c.4462del XP_016884748.1:p.Thr1488HisfsTer?
XM_017029260.1:c.4453del XP_016884749.1:p.Thr1485HisfsTer?
XM_017029263.2:c.2791del XP_016884752.1:p.Thr931HisfsTer?
NM_000495.5:c.4438del NP_000486.1:p.Thr1480HisfsTer?
NM_033380.3:c.4456del MANE Select NP_203699.1:p.Thr1486HisfsTer?
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